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Tbio
HPS5
Hermansky-Pudlak syndrome 5 protein

Protein Summary
Description
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000349215
  • ENSP00000265967
  • ENSG00000110756
  • ENST00000396253
  • ENSP00000379552
  • ENST00000438420
  • ENSP00000399590

Symbol
  • AIBP63
  • KIAA1017
  • AIBP63
  • BLOC2S2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.88
transcription factor binding site profile
0.85
tissue sample
0.67
cell line
0.6
transcription factor
0.59


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 19.68   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 105   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 19.68   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 105   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum amyloid A protein measurement
1
1
1
88.8
metabolite measurement
1
1
1
82.5
blood metabolite measurement
1
1
1
75.5
serum metabolite measurement
1
1
1
69.3
triglyceride measurement
1
1
1
11.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum amyloid A protein measurement
1
88.8
metabolite measurement
1
82.5
blood metabolite measurement
1
75.5
serum metabolite measurement
1
69.3
triglyceride measurement
1
11.3
Gene Ontology Terms (4)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
FlyBase
Protein-Protein Interactions (51)
1 – 10 of 51
TCL1B
Tbio
Novelty: 0.00649327
p_int: 0.999998977
p_ni: 0.000001023
Score: 0.226
Data Source: BioPlex,STRINGDB
HPS3
Tbio
Novelty: 0.03561482
p_int: 0.999875602
p_ni: 0.000124398
Score: 0.987
Data Source: BioPlex,STRINGDB
DEF8
Tdark
Novelty: 0.21146806
p_int: 0.999576535
p_ni: 0.000423465
Score: 0.179
Data Source: BioPlex,STRINGDB
GATD1
Tdark
Family: Enzyme
Novelty: 0.40291197
p_int: 0.998392754
p_ni: 0.001604889
p_wrong: 0.000002357
Score: 0.186
Data Source: BioPlex,STRINGDB
HPS6
Tbio
Novelty: 0.04680462
p_int: 0.998147096
p_ni: 0.001852904
Score: 0.99
Data Source: BioPlex,STRINGDB
AARSD1
Tdark
Novelty: 0.75372406
p_int: 0.974628103
p_ni: 0.025360061
p_wrong: 0.000011837
Data Source: BioPlex
TTC4
Tbio
Novelty: 0.00808711
p_int: 0.866914873
p_ni: 0.133085127
Data Source: BioPlex
SUGT1
Tbio
Novelty: 0.1042721
p_int: 0.824644435
p_ni: 0.175355565
Data Source: BioPlex
TRIM65
Tbio
Novelty: 0.09830696
p_int: 0.824449778
p_ni: 0.146515556
p_wrong: 0.029034666
Data Source: BioPlex
HPS4
Tbio
Novelty: 0.03363833
Score: 0.959
Data Source: STRINGDB
Publication Statistics
PubMed Score  19.68

PubMed score by year
PubTator Score  13.64

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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